Disease: Mental retardation- epileptic seizures- hypogonadism and hypogenitalism- microcephaly- and obesity
- Binding of human Cdc123 to eIF2γ
- Broadening the phenotypic spectrum and physiological insights related to EIF2S3 variants
- EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO
- Expanding the phenotype of the recurrent truncating eIF2gamma pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
- Expanding the phenotype of the recurrent truncating eIF2γ pathogenic variant p.(Ile465Serfs*4) identified in two brothers with MEHMO syndrome
- Immunologic phenotype of a child with the MEHMO syndrome
- Impaired EIF2S3 function associated with a novel phenotype of X-linked hypopituitarism with glucose dysregulation
- Ketogenic diet for refractory epilepsy with MEHMO syndrome: Caution for acute necrotizing pancreatitis
- MEHMO (Mental retardation, Epileptic seizures, Hypogenitalism, Microcephaly, Obesity): a new X-linked mitochondrial disorder
- MEHMO syndrome and the link between brain, pituitary and pancreas
- MEHMO syndrome mutation EIF2S3-I259M impairs initiator Met-tRNAiMet binding to eukaryotic translation initiation factor eIF2
- mRNA analysis revealed a novel pathogenic EIF2S3 variant causing MEHMO syndrome
- Neonatal hypoglycemia, early-onset diabetes and hypopituitarism due to the mutation in EIF2S3 gene causing MEHMO syndrome
- Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2gamma translational function, and literature review
- Novel pathogenic EIF2S3 missense variants causing clinically variable MEHMO syndrome with impaired eIF2γ translational function, and literature review
- Overstressed response to EIF2S3 variants in MEHMO syndrome
- Suppression of MEHMO Syndrome Mutation in eIF2 by Small Molecule ISRIB